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A novel tau mutatio...
A novel tau mutation in exon 9 (1260V) causes a four-repeat tauopathy
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Grover, A (author)
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England, E (author)
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Baker, M (author)
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Sahara, N (author)
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Adamson, J (author)
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Granger, B (author)
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Houlden, H (author)
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- Passant, Ulla (author)
- Lund University,Lunds universitet,Psykiatri, Lund,Sektion IV,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Psychiatry (Lund),Section IV,Department of Clinical Sciences, Lund,Faculty of Medicine
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Yen, SH (author)
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DeTure, M (author)
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Hutton, M (author)
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(creator_code:org_t)
- 2003
- 2003
- English.
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In: Experimental Neurology. - 0014-4886. ; 184:1, s. 131-140
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http://dx.doi.org/10...
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https://lup.lub.lu.s...
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https://doi.org/10.1...
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Abstract
Subject headings
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- A novel mutation in exon 9 of tau, I260V, is associated with a clinical syndrome consistent with frontotemporal dementia with extensive tau pathology; however, neurofibrillary tangles and Pick bodies are absent. Significantly, Sarkosyl- insoluble tau extracted from affected brain tissue consisted almost exclusively of four-repeat isoforms. Consistent with these findings, in vitro biochemical assays demonstrated that the I260V mutation causes a selective increase in tau aggregation and a decrease in tau-induced microtubule assembly with four-repeat isoforms only. The contrasting pathology and biochemical effects of this mutation suggest a different disease mechanism from the other exon 9 mutations and demonstrates the critical role for the first microtubule-binding domain in tau-promoted microtubule assembly and the pathogenic aggregation of tau.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Neurologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Neurology (hsv//eng)
Keyword
- neurodegeneration
- dementia
- pick body
- glial tau
- axonal
- microtubule assembly
- aggregation
- isoform
- tau
- four-repeat
Publication and Content Type
- art (subject category)
- ref (subject category)
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- By the author/editor
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Grover, A
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England, E
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Baker, M
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Sahara, N
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Adamson, J
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Granger, B
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show more...
-
Houlden, H
-
Passant, Ulla
-
Yen, SH
-
DeTure, M
-
Hutton, M
-
show less...
- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Neurology
- Articles in the publication
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Experimental Neu ...
- By the university
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Lund University